Canonical Allele Identifier: CA2320962228

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527271_7527287delinsCAAAAAAAAAAAAAAAA , CM000681.2:g.7527271_7527287delinsCAAAAAAAAAAAAAAAA	GRCh38
NC_000019.9:g.7592157_7592173delinsCAAAAAAAAAAAAAAAA , CM000681.1:g.7592157_7592173delinsCAAAAAAAAAAAAAAAA	GRCh37
NC_000019.8:g.7498157_7498173delinsCAAAAAAAAAAAAAAAA	NCBI36
NG_015806.1:g.9662_9678delinsCAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-249_572-233delinsCAAAAAAAAAAAAAAAA MANE Select	ENSP00000264079.5:n.572-249_572-233delinsCAAAAAAAAAAAAAAAA
ENST00000264079.10:c.572-249_572-233delinsCAAAAAAAAAAAAAAAA	ENSP00000264079.5:n.572-249_572-233delinsCAAAAAAAAAAAAAAAA
ENST00000394321.9:n.652-249_652-233delinsCAAAAAAAAAAAAAAAA
ENST00000598406.1:n.393-249_393-233delinsCAAAAAAAAAAAAAAAA
ENST00000601003.1:c.571+345_571+361delinsCAAAAAAAAAAAAAAAA	ENSP00000469074.1:n.571+345_571+361delinsCAAAAAAAAAAAAAAAA
NM_020533.2:c.572-249_572-233delinsCAAAAAAAAAAAAAAAA	NP_065394.1:n.572-249_572-233delinsCAAAAAAAAAAAAAAAA
NM_020533.3:c.572-249_572-233delinsCAAAAAAAAAAAAAAAA MANE Select	NP_065394.1:n.572-249_572-233delinsCAAAAAAAAAAAAAAAA